Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

low density lipoprotein receptor-related protein 6
ska26,  skax26,  Cd,  skam26Jus

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lrp6 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lrp6 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Lrp6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc... OMIM:232700
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glutamyltransf... OMIM:614480
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hypertriglyceridemia, Splenomegaly, Hepatomegaly OMIM:619175
Acropectorovertebral Dysplasia
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Abn... OMIM:102510
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... OMIM:619868
Scheuermann Disease
Osteochondrosis, Morbus Scheuermann, Kyphosis OMIM:181440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn... ORPHA:2064
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Increased LDL cholesterol conce... OMIM:615703
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Dwarfism With Tall Vertebrae
Increased vertebral height OMIM:126950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... OMIM:610717
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... OMIM:612526
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Hypogonadism, Hydrocephalus, Microphthalmia, Cryptorchidism, Retinal coloboma OMIM:601794
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Erysipelas, Neonatal cholestatic liver diseas... OMIM:214900
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo... OMIM:605814
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:619874
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Ambiguous genitalia, Aplasia/hypoplasia of the femur, Micrognathia, Disl... ORPHA:2839
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... OMIM:232400
Glycogen Storage Disease Ixa1
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... OMIM:620010
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... ORPHA:369
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic steat... ORPHA:280356
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... OMIM:603471
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... OMIM:619662
Cholesteryl Ester Storage Disease
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... ORPHA:75234
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Microphthalmia, Cryptorchidism, Re... ORPHA:363741
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Gout, Increased LDL cholesterol concentrat... OMIM:610947
Osteoporosis OMIM:166710
Rotor Syndrome
Intermittent jaundice, Storage in hepatocytes, Jaundice, Hyperbilirubinemia, Abnormal circulating... ORPHA:3111
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spina bifida occulta, Spondylolisthesis, Osteoarthritis OMIM:184300
Sprengel Deformity
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Shoulder musc... OMIM:184400
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Pancreatitis OMIM:246650
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Erythema nodosum, Inflammation of the large intestine, Increased circula... OMIM:300635
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... OMIM:619658
Spina bifida, Aplasia/Hypoplasia of the radius, Sirenomelia, Absence of the sacrum ORPHA:3169
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Hepatic ... OMIM:278000
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... OMIM:616278
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Unconjugated hyperbilirubinemia, Biliary tract abnormality, Neonatal hy... ORPHA:79234
Bresek Syndrome
Alopecia, Convex nasal ridge, Plagiocephaly, Low-set ears, Hydrocephalus, Intrauterine growth ret... ORPHA:85284
Microphthalmia, Isolated 8
Short palpebral fissure, Anophthalmia, Hypoplastic optic chiasm, Entropion, Optic nerve hypoplasi... OMIM:615113
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, High palate, Prominent nose, Wide nasal bridge, Macrocephaly, Bulbous nose... ORPHA:2180
Orofaciodigital Syndrome Ix
Short tibia, High palate, Toe syndactyly, Hand polydactyly, Camptodactyly, Median cleft lip, Acce... OMIM:258865
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increase... ORPHA:446
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis, Brachydactyly ORPHA:2956
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
African Iron Overload
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Elevated transferrin saturatio... ORPHA:139507
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... OMIM:613027
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Insulin-resistant diabetes m... ORPHA:79085
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone... OMIM:271500
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Nevus Comedonicus Syndrome
Finger syndactyly, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Spina bifida occu... ORPHA:64754
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae OMIM:616566
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Coxa valga, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Macular col... OMIM:216800
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... OMIM:615980
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Restricted large joint movement, Abnormal vertebral morphology, Platyspo... ORPHA:163665
Al Kaissi Syndrome
Sacral dimple, Brachycephaly, Decreased head circumference, Long philtrum, Wide nasal bridge, Sho... OMIM:617694
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Niemann-Pick Disease, Type B
Decreased acid sphingomyelinase activity, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:607616
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Preaxial hand polydactyly, Decreased testicular size, Synophrys, Cryptorchidism,... ORPHA:85287
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia ORPHA:79235
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... ORPHA:1797
Kyphosis, Increased bone mineral density, Scoliosis, Sclerotic vertebral body, Abnormal form of t... ORPHA:2777
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Congenital Disorder Of Glycosylation, Type Iio
Elevated alkaline phosphatase of bone origin, Cirrhosis, Hepatic failure, Cholestatic liver disea... OMIM:616828
Kapur-Toriello Syndrome
Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Clinodactyly of the 5th ... OMIM:244300
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Hip osteoarthritis, Heberden's node, Platyspondyly, Beaking of ver... OMIM:604864
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Rhizomelia... ORPHA:63259
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Increased serum iron, Elevated transferrin saturation, Elevated hepa... OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Skin rash, Jaundice, Increased circulating ferritin concentration, Hepatomegaly, ... OMIM:603552
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Hemochromatosis, Neonatal
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... OMIM:231100
Acrocallosal Syndrome
Tapered finger, Coloboma, Optic atrophy, Epicanthus, Toe syndactyly, Everted upper lip vermilion,... OMIM:200990
Pyle Disease
Thin bony cortex, Genu valgum, Mandibular prognathia, Thickened calvaria, Hypoplastic frontal sin... OMIM:265900
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida, Bifid sternum ORPHA:63260
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperuricemia, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin... OMIM:604367
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Vertebral fusion, Mandibular prognathia, Plagiocephaly, Patellar d... ORPHA:2916
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyperglycemia, Hypertrigly... OMIM:608600
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elev... ORPHA:567983
Lipodystrophy, Familial Partial, Type 5
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Hypertriglycer... OMIM:615238
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Biliary Atresia, Extrahepatic
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... OMIM:210500
Facial Clefting, Oblique, 1
Talipes calcaneovalgus, Cleft upper lip, Coloboma, Microphthalmia, Cleft palate, Deep palmar crease OMIM:600251
Trichodentoosseous Syndrome
Widely spaced teeth, Increased bone mineral density, Microdontia, Taurodontia, Dolichocephaly, Fr... OMIM:190320
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... OMIM:607765
Gorlin Syndrome
Brachycephaly, Vertebral fusion, Mandibular prognathia, Wide nasal bridge, Vertebral wedging, Abn... ORPHA:377
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra... OMIM:619256
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Genu valgum, Mandibular prognathia, Plagiocephaly, Long philtrum, Short stature, T... OMIM:619721
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase OMIM:618400
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Brachycephaly, Synophrys, Midface retrusion, Delayed skeletal maturation... ORPHA:1327
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia ORPHA:329249
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Neural Tube Defects, Susceptibility To
Sacral dimple, Myelomeningocele, Absence of the sacrum, Anencephaly, Hydrocephalus, Spina bifida ... OMIM:182940
Apolipoprotein C-Ii Deficiency
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... OMIM:207750
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hydrocephalus, Holoprosencephaly, Talipes, Po... ORPHA:945
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Splenomegaly, Hepatomegaly OMIM:237800
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch... ORPHA:209902
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma, Orbital cyst OMIM:251505
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Wi... OMIM:113000
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Slender long bone, Hip dislocation, Limitation of joint mobility, Spina bifida occulta, Hypoplast... ORPHA:2840
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, P... ORPHA:93403
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, Brachycephaly, Stapes ankylosis, Skull asymmetry, Wide nasal bridge, Synophry... OMIM:614701
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Steatorrhea, Intrah... OMIM:235555
Ritscher-Schinzel Syndrome 2
Clinodactyly, Camptodactyly, Short philtrum, Overlapping toe, Broad hallux, Syndactyly, Protrudin... OMIM:300963
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnor... ORPHA:64755
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Joint hyperflexibility, ... ORPHA:2475
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... OMIM:618469
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology ORPHA:1436
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Acrofacial Dysostosis, Palagonia Type
Micrognathia, Midface retrusion, Spina bifida occulta, Short neck, Delayed skeletal maturation, S... ORPHA:1787
Anophthalmia Plus Syndrome
Non-midline cleft lip, Anophthalmia, Spina bifida, Blepharophimosis, Iris coloboma, Eyelid colobo... ORPHA:1104
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hyperl... ORPHA:435660
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Unilateral ... OMIM:206920
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Coloboma, Joint contracture of the hand, ... OMIM:136760
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... ORPHA:79303
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites ORPHA:890
Orofaciodigital Syndrome Type 10
Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Hypoplasia of proximal radiu... ORPHA:2756
Mmep Syndrome
Triphalangeal thumb, Median cleft lip, Split foot, Microphthalmia, Cryptorchidism, Orofacial cleft ORPHA:3434
Disorganization, Mouse, Homolog Of
Limb duplication, Cleft upper lip, Hip dislocation, Hand polydactyly, Cleft palate OMIM:223200
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... OMIM:122600
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Preaxial foot polydactyly, Anencephaly, Hydrocephalus, Micrognathia, Pos... OMIM:614120
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... ORPHA:247598
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... OMIM:255120
Cranioectodermal Dysplasia
Rhizomelia, Microdontia, Hypodontia, Taurodontia, Dolichocephaly, Prominent occiput, Frontal boss... ORPHA:1515
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase OMIM:143500
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Vertebral segmen... ORPHA:2311
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Microphthalmia, Syndromic 8
Short palpebral fissure, Cleft upper lip, Blepharophimosis, Split foot, Microphthalmia, Widely-sp... OMIM:601349
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Microcephalic Primordial Dwarfism, Montreal Type
Convex nasal ridge, Kyphosis, Premature graying of hair, Vertebral segmentation defect, Micrognat... ORPHA:2617
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... OMIM:173800
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Ankyloblepharon, Tooth agenesis, Cryptorchidism, Cleft palate ORPHA:1074
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Humeroradial synostosis, Oligodactyly OMIM:614416
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Microg... OMIM:311895
Verheij Syndrome
Vertebral fusion, Long philtrum, Wide nasal bridge, Short stature, Hip dislocation, Short nose, T... OMIM:615583
Isolated Polycystic Liver Disease
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly ORPHA:2924
Trigonocephaly 1
Long philtrum, Wide nasal bridge, High, narrow palate, Synophrys, Short nose, Microcephaly, Lumba... OMIM:190440
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertrigly... ORPHA:435651
Ulnar Hemimelia
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... ORPHA:93320
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Block vertebrae, Vertebral ... OMIM:613686
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Ascites, Elevated circulating alkaline phosphatase concentration, Poly... OMIM:174050
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Elevated hepatic transaminase, Hepatocellula... ORPHA:370
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... OMIM:611638
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Horizontal eyebrow, Long philtrum, Deep philtrum, Epicanthus, Narrow palpebral fissure, Microretr... OMIM:618571
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Coloboma, Foot oligodactyly, Anterior encephalocele, Bilateral cleft lip, Short ... OMIM:601357
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... OMIM:618528
Intellectual Developmental Disorder, Autosomal Dominant 1
Brachycephaly, Micrognathia, Microdontia, Midface retrusion, Everted lower lip vermilion, Cupped ... OMIM:156200
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Hypercholesterolemia ORPHA:181393
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Renal Agenesis, Bilateral
Non-midline cleft lip, Epicanthus, Tracheoesophageal fistula, Abnormal intestine morphology, Sire... ORPHA:1848
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Micrognathia, Pierre-Robin sequence, Cleft palate OMIM:172880
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Microdontia, Supernumerary tooth, Diastema, Joint hypermobility, Agenesis of molar, Del... OMIM:619718
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hemochromatosis, Type 4
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... OMIM:606069
Three M Syndrome 1
Hyperlordosis, Short thorax, Increased vertebral height, Short 5th finger, Short ribs, Slender lo... OMIM:273750
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... ORPHA:139491
Acropectorovertebral Dysplasia
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... ORPHA:957
Chondrodysplasia Punctata 2, X-Linked Dominant
Patellar dislocation, Epiphyseal stippling, Short neck, Sparse eyelashes, Sparse hair, Hearing im... OMIM:302960
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Scoliosis, Platyspondyly ORPHA:3180
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... OMIM:619232
Bile Acid Malabsorption, Primary, 2
Elevated circulating alanine aminotransferase concentration, Periportal fibrosis, Decreased circu... OMIM:619481
Intellectual Disability, Wolff Type
Camptodactyly of finger, Non-midline cleft lip, Thick lower lip vermilion, Clinodactyly of the 5t... ORPHA:3080
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the upper limb, Clinodactyly of the 5th finger, Oligodactyly, Almond-shaped palpeb... ORPHA:521308
Microphthalmia, Isolated 4
Absent testis, Microphthalmia, Coloboma OMIM:613094
Biemond Syndrome Type 2
Coloboma, Hypogonadism, Hydrocephalus, Hypospadias, Microphthalmia, Hypogonadotropic hypogonadism ORPHA:141333
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Otodental Syndrome
Abnormal molar morphology, High-frequency sensorineural hearing impairment, Odontoma, Long philtr... ORPHA:2791
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Cholelithiasis, Eczema OMIM:177000
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Hand clenching, Downslanted palpebral fissures, Coloboma, Toe syndactyly... ORPHA:1617
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Spina bifida, Dermatoglyphic ridges abnormal, Camptodactyly, Small... OMIM:211960
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... ORPHA:3104
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... OMIM:615381
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge OMIM:309620
Atkin-Flaitz Syndrome
Genu valgum, Kyphosis, Prominent median palatal raphe, Exaggerated median tongue furrow, Thick lo... OMIM:300431
Coffin-Siris Syndrome 3
Hirsutism, Delayed skeletal maturation, Cleft palate, Thick eyebrow, Hearing impairment, Macroglo... OMIM:614608
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Preaxial polydactyly, Micromelia, Clef... OMIM:616546
Hartsfield Syndrome
Downslanted palpebral fissures, Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Pt... ORPHA:2117
Tibial Hemimelia
Short tibia, Polydactyly, Ambiguous genitalia, Coxa valga, Hip dislocation, Metatarsus adductus, ... ORPHA:93322
Citrullinemia Type Ii
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... ORPHA:247585
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly... OMIM:616860
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Ca... OMIM:603546
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Optic atrophy, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2289
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Limitation of joint mobility, Spina bifida occulta, Scoliosis, Abnormal met... ORPHA:177
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Hand clenching, Flexion contracture, Multiple joint contractures, Kyphosis, Hip di... OMIM:618291
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Clark-Baraitser syndrome
Genu valgum, Kyphosis, Prominent median palatal raphe, Exaggerated median tongue furrow, Thick lo... OMIM:300602
Increased bone mineral density OMIM:265880
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae OMIM:608681
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, High palate, Microdontia, Abnormal metacarpal morphology, Abnorm... ORPHA:1307
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Short femoral neck, Coxa vara, Corner fracture of metaphysi... OMIM:184255
Momo Syndrome
Short sternum, Downslanted palpebral fissures, Dental malocclusion, High palate, Long philtrum, E... OMIM:157980
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Santos Syndrome
Polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Syndactyly, Preaxial polydactyly, Br... OMIM:613005
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Pelvis-Shoulder Dysplasia
Back pain, Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida... OMIM:169550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Hepatosplenomegaly, Increased circulating ferritin concentration, Colitis, H... OMIM:613101
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... ORPHA:363400
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short thorax, Kyphosis, Spina bifida occulta, Short neck, Reduced bone mineral density ORPHA:2983
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp... OMIM:178110
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Ambiguous genitalia, Cleft upper lip, Joint contracture of the hand, Camptodactyly, Micromelia, L... OMIM:601016
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Epicanthus, Spina bifida occulta... OMIM:607323
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... ORPHA:33402
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia ORPHA:71529
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... ORPHA:93351
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Ritscher-Schinzel Syndrome 1
Brachycephaly, Micrognathia, Hydrocephalus, Prominent occiput, Depressed nasal bridge, Low poster... OMIM:220210
Hemochromatosis Type 2
Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Elevated transferr... ORPHA:79230
Joubert Syndrome With Ocular Defect
Encephalocele, Foot polydactyly, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Hand po... ORPHA:220493
Bardet-Biedl Syndrome 5
Polydactyly, Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Syndactyly, Micropeni... OMIM:615983
Intellectual Disability, Birk-Barel Type
Sacral dimple, Congenital finger flexion contractures, Foot joint contracture, Incisor macrodonti... ORPHA:166108
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Short stature, Unilateral microphthalmos, Bilateral microphthalmos, Hirsutism, Mic... OMIM:619318
Doors Syndrome
Ambiguous genitalia, Short 5th finger, Optic atrophy, Epicanthus, Short lingual frenulum, Spina b... ORPHA:79500
Winchester Syndrome
Kyphosis, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis, Osteolysis involving ta... OMIM:277950
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles... OMIM:243300
Short Stature Due To Ghsr Deficiency
Decreased body weight, Abnormality of body weight, Delayed puberty, Hypoglycemia, Decreased serum... ORPHA:314811
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function OMIM:601466
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Widely-spaced incisors, Irregular vertebral endplates, Oligodontia, Proportionate sh... OMIM:601668
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia, Coloboma OMIM:613703
Fountain Syndrome
Metaphyseal dysplasia, Kyphosis, Spina bifida, Coarse metaphyseal trabecularization, Craniofacial... ORPHA:3219
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Joint hyperflexibi... ORPHA:40
Brachyolmia Type 1, Hobaek Type
Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl... OMIM:271530
Snijders Blok-Campeau Syndrome
Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Widely spaced teeth, Taurodont... OMIM:618205
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Sensorineural hearing impairment, Short stature, Delayed eruption of t... ORPHA:71267
Congenital Generalized Lipodystrophy
Cirrhosis, Increased C-peptide level, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Di... ORPHA:528
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mandibular prognathia, Avascular necrosis, Kyphosis, Delayed eruption of... ORPHA:137834
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Abnormal erythr... ORPHA:264580
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Increased circulating lactate dehydr... ORPHA:158061
Cerebrofaciothoracic Dysplasia
Wide nose, Brachycephaly, Cleft upper lip, Wide mouth, Short stature, Low posterior hairline, Ver... ORPHA:1394
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Lacrimal duct aplasia, Median cl... DECIPHER:46
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Bifid uvula, Missing ribs, Median clef... OMIM:184705
Filippi Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Hypodontia, Microdontia, Abnormality of dental morp... OMIM:272440
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Postprandial hyperglycemia, Hype... ORPHA:2089
Kbg Syndrome
Bilateral conductive hearing impairment, Synophrys, Short neck, Delayed skeletal maturation, Abno... ORPHA:2332
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Aarskog-Scott Syndrome
Camptodactyly of finger, Broad foot, Epicanthus, Delayed eruption of teeth, Everted lower lip ver... ORPHA:915
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... OMIM:619048
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Wide nasal bridge, Abnormal lip mo... ORPHA:2759
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Micrognathia, Hypodontia, Radioulnar synostosis, Metacarpal synostosis, Scolio... OMIM:212780
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Bifid uvula, Protruding tongue, Alveolar ridge overgrowth, Cryptorchidism, Thin ve... OMIM:612938
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... OMIM:615395
Isolated Klippel-Feil Syndrome
Abnormal cranial nerve morphology, Spina bifida, Abnormal sacrum morphology, Abnormal vertebral s... ORPHA:2345
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Tongue atrophy, Delayed eruption of teeth, Microtia, Poliosis, Pat... OMIM:141300
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased lecithin cholesterol acyl transferase level, Hypertriglyceridemia, Decreased HDL choles... OMIM:245900
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Vertebral segmentation defect, Hip dysplasia, Preaxia... ORPHA:1988
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi... OMIM:613849
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Hypertriglyceridemia, Insulin resistance, Hyperlipidemia OMIM:617885
3C Syndrome
Kyphosis, Wide nasal bridge, Death in infancy, Micrognathia, Short stature, Macrocephaly, Hydroce... ORPHA:7
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion OMIM:618845
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... ORPHA:79302
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Single transverse palmar crease, Short palm OMIM:101805
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Humeroradial synostosis, Micrognathia, Elbow flexion contracture,... OMIM:151050
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Bruck Syndrome 1
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... OMIM:259450
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... ORPHA:209919
Brachyolmia, Maroteaux Type
Scoliosis, Abnormal form of the vertebral bodies, Platyspondyly ORPHA:93302
Cenani-Lenz Syndrome
Downslanted palpebral fissures, Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia ... ORPHA:3258
Non-Distal Trisomy 10Q
Brachycephaly, Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, High palate, Short statu... ORPHA:1695
Meckel Syndrome, Type 10
Sacral dimple, Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Ulnar de... OMIM:614175
Meckel Syndrome, Type 8
Polydactyly, Ambiguous genitalia, Cleft upper lip, Encephalocele, Anophthalmia, Microphthalmia, C... OMIM:613885
Cofs Syndrome
Camptodactyly of finger, Sensorineural hearing impairment, Wide nasal bridge, Death in infancy, A... ORPHA:1466
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hep... ORPHA:158057
Momo Syndrome
Thick upper lip vermilion, Dental malocclusion, Brachycephaly, Abnormal bone ossification, High p... ORPHA:2563
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Dental malocclusion, Moderately short stature, Irregular vertebral endpl... OMIM:612350
Braddock Syndrome
Short stature, Micrognathia, Short neck, Scoliosis, Abnormal hair pattern, Intrauterine growth re... ORPHA:52047
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Increase... ORPHA:3352
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia, Hypoa... OMIM:619013
Proximal 16P11.2 Microduplication Syndrome
Sparse eyebrow, Short stature, Microtia, Abnormality of the hairline, Frontal bossing, Thin upper... ORPHA:370079
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... ORPHA:79084
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Wide nasal bridge, Micrognathia, Synophrys, Recurrent sinusitis, Supernumerary nip... OMIM:213980
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, Short 5th metacarpal, Prominent sternum, Clinodactyly of the 5th fin... OMIM:617877
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Diabetes mellitus, Abnormal circulating lipid concentration, Membranoprolifera... OMIM:608709
Pallister-Hall-Like Syndrome
Short ribs, Toe syndactyly, Micrognathia, Hydrocephalus, Hip dislocation, Postaxial foot polydact... OMIM:241800
Otodental Dysplasia
Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu... OMIM:166750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Elevated hepatic transam... ORPHA:79240
Autosomal Dominant Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Micrognathia, Fingernail dysplasia, Hip... ORPHA:3107
Hall-Riggs Syndrome
Prominent nose, Thick hair, Wide mouth, Delayed eruption of teeth, Wide nasal bridge, Thick vermi... ORPHA:2107
Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Abnormal circulating enzyme concentration or act... ORPHA:79319
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Molar tooth sign on MRI, Clinodactyly, Spindle-shaped finger, Abnormal vertebral mor... ORPHA:166024
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Coach Syndrome 2
Hepatic fibrosis, Elevated hepatic transaminase, Portal fibrosis, Elevated circulating creatinine... OMIM:619111
Microcephaly-Micromelia Syndrome
Short tibia, Short palpebral fissure, Absent thumb, Aqueductal stenosis, Humeroradial synostosis,... OMIM:251230
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:3268
Trichorhinophalangeal Syndrome, Type Iii
Underdeveloped nasal alae, Sparse lateral eyebrow, Long philtrum, Avascular necrosis of the capit... OMIM:190351
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Joubert Syndrome 18
Molar tooth sign on MRI, Arrhinencephaly, Camptodactyly, Kyphoscoliosis, Occipital encephalocele,... OMIM:614815
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Prominent nose, Long philtrum, Joint contracture o... OMIM:214150
Fanconi-Bickel Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... ORPHA:2088
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Midface retrusion,... OMIM:268310
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Triphalangeal thumb, 11 pairs of ribs, High palate, Absent forearm, Micrognathia, Cl... OMIM:201170
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Flat capital femoral epiphysis, Camptodactyly, Generalized osteoporosis, Irregula... ORPHA:1159
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Microdontia, Abnormality of den... ORPHA:2722
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Cleft palate OMIM:120433
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Syndactyly, Cleft palate, Abnormal hip bone morphology ORPHA:294975
Oculodentodigital Dysplasia
Conductive hearing impairment, Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocatio... OMIM:164200
Cholestasis, Progressive Familial Intrahepatic, 6
Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin... OMIM:619484
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Underdeveloped nasal alae, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Mac... OMIM:618825
Anauxetic Dysplasia 2
Hyperlordosis, Flexion contracture, Small nail, Short stature, Posterior wedging of vertebral bod... OMIM:617396
Pierpont Syndrome
Brachycephaly, High anterior hairline, Macrotia, Widely spaced teeth, Primary microcephaly, Uplif... ORPHA:487825
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Diastrophic Dysplasia
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Talipes equinovarus, Short f... OMIM:222600
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Sclerotic humeral metaphysis, Coxa valga, Osteoporotic tarsals, Metaphy... OMIM:609052
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate, Telecanthus OMIM:300484
Cleidocranial Dysplasia
Tapered finger, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morphology, Genu va... ORPHA:1452
Rubinstein-Taybi Syndrome 2
Retrognathia, Dental malocclusion, Talon cusp, Convex nasal ridge, Narrow palate, High palate, Pr... OMIM:613684
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... OMIM:214950
Hypobetalipoproteinemia, Familial, 1
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... OMIM:615558
Developmental And Epileptic Encephalopathy 80
Triphalangeal thumb, Tapered finger, High palate, Long philtrum, Wide mouth, Micrognathia, Tented... OMIM:618580
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Microphthalmia, Isolated, With Coloboma 10
Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:616428
Meckel Syndrome 13
Micrognathia, Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Smith-Magenis Syndrome
Brachycephaly, Conductive hearing impairment, Wide nasal bridge, Micrognathia, Synophrys, Taurodo... ORPHA:819
Retrognathia, Dentinogenesis imperfecta, Short stature, Delayed eruption of teeth, Death in infan... ORPHA:166272
Hyperlipoproteinemia, Type I
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... OMIM:238600
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Synophrys, Short philtrum, Long eyelashes, Large earlobe, Everted lower lip vermili... ORPHA:411986
Trichorhinophalangeal Syndrome, Type I
Ivory epiphyses of the distal phalanges of the hand, Leukonychia, Delayed eruption of teeth, Micr... OMIM:190350
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Scoliosis, Abnormality of the humeroulnar joint ORPHA:1570
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Hepatic steatosis,... ORPHA:79083
Microphthalmia With Limb Anomalies
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... ORPHA:1106
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, El... OMIM:619386
Acquired Generalized Lipodystrophy
Cirrhosis, Abnormal circulating lipid concentration, Hyperinsulinemia, Insulin resistance, Hepati... ORPHA:79086
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Synophrys, Abnormality of dent... ORPHA:2025
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Midface retrusion, Posteriorly rotated ears, Postnatal growth retardation, Macroglossia, Short no... OMIM:301040
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Biparietal narrowing, Hip dislocation, Abnormal toenail morphology... ORPHA:1005
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Micrognathia, Hand oligodac... OMIM:602418
Kapur-Toriello Syndrome
Hypoplastic labia majora, Hypoplasia of penis, Intestinal malrotation, Iris coloboma, Orofacial c... ORPHA:2328
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Spina bifida occulta, Scoliosis, Bicoronal synostosis, Lambdoidal cranios... OMIM:618736
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypoglycemia, Hepatom... OMIM:602579
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Hyperl... ORPHA:90970
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Reduced circulating growth hormone concentration, Decreased serum in... OMIM:262400
Congenital Herpes Simplex Virus Infection
Hydranencephaly ORPHA:293
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... OMIM:615947
Osteoglosphonic Dysplasia
Abnormal bone ossification, Rhizomelia, Micrognathia, Protruding ear, Severe short stature, Multi... ORPHA:2645
Monosomy 18P
Abnormal antihelix morphology, Brachycephaly, Wide nasal bridge, Micrognathia, Holoprosencephaly,... ORPHA:1598
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Decreased... OMIM:609223
Poland Syndrome
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... ORPHA:2911
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Short 5th finger, Coloboma, Micrognathia, Abnormal optic disc morphology, Hip... ORPHA:508498
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Trisomy 4P
Camptodactyly of finger, Abnormal antihelix morphology, Radial club hand, Macrotia, Short stature... ORPHA:1738
Kleefstra Syndrome 1
Natal tooth, Synophrys, Macroglossia, Brachydactyly, Everted lower lip vermilion, Single transver... OMIM:610253
Hypercholesterolemia, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increased LDL cho... ORPHA:412
Meningocele, Non-midline cleft lip, Ambiguous genitalia, Aplasia/Hypoplasia affecting the eye, Fi... ORPHA:3376
Mosaic Trisomy 9
Camptodactyly of finger, Small nail, High palate, Webbed neck, Spina bifida, Micrognathia, Bipari... ORPHA:99776
Congenital Disorder Of Deglycosylation 2
High palate, Micrognathia, Macroglossia, Broad thumb, Hamartoma of tongue, Sandal gap, Ulnar devi... OMIM:619775
Tangier Disease
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... OMIM:205400
Dubin-Johnson Syndrome
Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili... ORPHA:234
Temtamy Syndrome
Short toe, Genu varum, Thick lower lip vermilion, Micrognathia, Clinodactyly of the 5th finger, I... ORPHA:1777
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Macular coloboma, Retinal coloboma OMIM:107550
Carpenter Syndrome 1
Coxa valga, Optic atrophy, Toe syndactyly, Flared iliac wing, Camptodactyly, Metatarsus adductus,... OMIM:201000
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of teeth, Microcephaly, Cleft palate, Craniosynostosis, Intr... OMIM:600252
Brachyolmia Type 2
Platyspondyly OMIM:613678
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Blepharocheilodontic Syndrome 1
Conical tooth, Lagophthalmos, Cleft upper lip, Neural tube defect, Hypodontia, Clinodactyly, Anal... OMIM:119580
Acrocraniofacial Dysostosis
Triphalangeal thumb, Genu valgum, Coxa valga, Tapered finger, Short 1st metacarpal, Flared iliac ... ORPHA:949
Distal Monosomy 7Q36
Symphalangism affecting the phalanges of the hand, Non-midline cleft lip, Optic atrophy, Wide mou... ORPHA:1636
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Midface retrusion, Nail ... ORPHA:97360
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Ambiguous genitalia, Absent thumb, Micrognathia, Hypoplastic labia major... OMIM:263650
Warburg Micro Syndrome 1
Macrotia, Low-set ears, Wide nasal bridge, Short stature, Micrognathia, Joint hypermobility, Hype... OMIM:600118
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly ORPHA:156
Codas Syndrome
Sensorineural hearing impairment, Short stature, Delayed eruption of teeth, Crumpled ear, Abnorma... ORPHA:1458
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Premature... ORPHA:93284
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Anencephaly 2
Short palpebral fissure, Anophthalmia, Cleft maxillary alveolar ridge, Anencephaly, Median cleft ... OMIM:619452
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Nail dysplasia, C... OMIM:308300
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... OMIM:208230
Bardet-Biedl Syndrome 4
Polydactyly, Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration,... OMIM:615982
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Flexion contracture, Prominent nose, Turricephaly, Hip dislocation, Dolichocephaly, Tho... OMIM:203550
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Hepa... OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Elevated ci... OMIM:601847
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Biconcave vertebral bodies, Increased susceptibility to fractures, Joint lax... OMIM:613982
Down Syndrome
Narrow palate, Epicanthus, Thick lower lip vermilion, Microdontia, Aganglionic megacolon, Clinoda... ORPHA:870
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Epicanthus, Camptodactyly of toe, C... OMIM:300244
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft upper lip, Broad proximal phalanges of the hand, Optic nerve hypop... OMIM:607597
Phenobarbital Embryopathy
Epicanthus, Aplasia/Hypoplasia of fingers, Hypospadias, Brachydactyly, Unilateral cleft lip ORPHA:1919
Pierpont Syndrome
Brachycephaly, Midface retrusion, Everted lower lip vermilion, Large fleshy ears, Short neck, Smo... OMIM:602342
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Slender long bone, Spina bifida occulta, Joint hyperflexibility, Cubitus valgus, R... ORPHA:1185
Autosomal Recessive Amelia
Non-midline cleft lip, Micrognathia, Acromelia of the lower limbs, Hypoplasia of penis, Amelia in... ORPHA:1027
Joubert Syndrome 16
Polydactyly, Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Hallermann-Streiff Syndrome
Brachycephaly, Selective tooth agenesis, Micrognathia, Tracheomalacia, Everted lower lip vermilio... OMIM:234100
Chylomicron Retention Disease
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Hypocholeste... ORPHA:71
Witkop Syndrome
Small nail, Fine hair, Nail pits, Agenesis of permanent teeth, Ridged nail, Concave nail, Microdo... OMIM:189500
Aredyld Syndrome
Sparse body hair, Mandibular prognathia, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnorm... ORPHA:1133
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Tetrasomy 12P
Thick upper lip vermilion, Sparse eyebrow, Long philtrum, Short stature, Delayed eruption of teet... ORPHA:884
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Hyperbil... ORPHA:64743
Cockayne Syndrome Type 2
Enamel hypoplasia, Flexion contracture, Mandibular prognathia, Delayed eruption of primary teeth,... ORPHA:90322
Charlie M Syndrome
Triphalangeal thumb, Non-midline cleft lip, Finger syndactyly, Micrognathia, Abnormal metacarpal ... ORPHA:1406
Trichorhinophalangeal Syndrome Type 1 And 3
Camptodactyly of finger, Hyperlordosis, Sparse eyebrow, Macrotia, High palate, Long philtrum, Ava... ORPHA:77258
Odontochondrodysplasia 1
Short phalanx of finger, Flared iliac wing, Polycystic kidney dysplasia, Platyspondyly, Metaphyse... OMIM:184260
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Craniometadiaphyseal Dysplasia
Genu varum, Abnormally large globe, Mandibular prognathia, High palate, Genu valgum, Natal tooth,... OMIM:269300
Congenital Isolated Acth Deficiency
Hepatitis, Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemi... ORPHA:199296
Orofaciodigital Syndrome Xiv
Bifid tongue, Micrognathia, Broad hallux, Holoprosencephaly, Postaxial hand polydactyly, Cleft pa... OMIM:615948
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperuricemia, Hyperlipidemia ORPHA:364
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Umbilical hernia, Abnormality of retinal pigmentation ORPHA:2196
Fryns Microphthalmia Syndrome
Macrotia, Anophthalmia, Neural tube defect, Microphthalmia, Abnormality of the vertebral column, ... OMIM:600776
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ... OMIM:619719
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Vertebral segmentation defect, Frontal bossing, Depressed nasal bridge... OMIM:617661
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Downslanted palpebral fissures, Non-midline cleft lip, Aplasia/Hypoplasi... ORPHA:1784
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... OMIM:156530
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly, Kyphosis, Wide mouth, Spinal rigidity, Micrognathia, Wide nasal bridge, Short phil... ORPHA:2062
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the eyebrow,... ORPHA:1794
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Finger syndactyly ORPHA:1514
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spina bifida occulta, Optic disc pallor, Tethered cord OMIM:615281
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema OMIM:176090
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Coxa valga, Lumbar kyphosis, Short neck, Ovoid... OMIM:253000
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology ORPHA:2015
Joubert Syndrome 1
Optic disc pallor, Epicanthus, Retinal dystrophy, Clinodactyly, Macroglossia, Postaxial foot poly... OMIM:213300
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Abnormal vertebral morphology, Hypoplasia of the pons, Abnormal midbrain... ORPHA:280195
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Microdontia, Smooth philtrum, Coarse hair, Sparse hair, Frontal bossin... ORPHA:50814
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed cranial suture closure, Brachycephaly, Conductive hearing impairment, Wide nasal bridge, ... ORPHA:2780
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Short neck, Cervical C2/C3 vertebral fusion, Scoliosis OMIM:214300
Zechi-Ceide Syndrome
Short palpebral fissure, Cleft upper lip, Blepharophimosis, Oligodontia, Narrow palpebral fissure... OMIM:612916
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Ankyloblepharon, Cleft palate, Cleft upper lip OMIM:106250
Micro Syndrome
High palate, Optic atrophy, Micrognathia, Hypoplastic labia minora, Hypoplasia of penis, Short ph... ORPHA:2510
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular dentition, Wide mouth, Retinal degeneration, Synophrys, Macular atrophy, Irregular epip... OMIM:619260
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger, Osteoporosis ORPHA:2787
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Sensorineural hearing impairment, Delayed eruption of teeth, Relative... OMIM:616354
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Abnormality of cranial sutures, Increased bone mineral density, Micrognathia, Shor... ORPHA:163649
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Myelomeningocele, 2-3 finger syndactyly, Spina bifida, Hydrocephalus, Cl... ORPHA:2437
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Cleft lower lip, Cleft upper lip, Fusion of gums, Diastema, Median cleft lip ORPHA:401942
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Cleft... OMIM:619110
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Coarse metaphy... ORPHA:2635
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... OMIM:617049
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Hypoplastic toenails, Delayed eruption of teeth, Hypodontia, Abnormality of dental... ORPHA:2228
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Liver Failure, Infantile, Transient
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja... OMIM:613070
Fetal Alcohol Syndrome
Non-midline cleft lip, Short stature, Vertebral segmentation defect, Micrognathia, Microdontia, B... ORPHA:1915
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con... OMIM:600649
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hepatic steatosis, Increased blood urea nitrogen, Hypoglycemia, Hepatomegaly, El... OMIM:617872
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Split foot, Hand ... OMIM:183600
49,Xxxxy Syndrome
Wide nose, Brachycephaly, Mandibular prognathia, Depressed nasal ridge, Short stature, Delayed er... ORPHA:96264
Trisomy 8Q
Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Bifid tongue, High palate, Micr... ORPHA:1752
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Incisor macrodontia, Long philtrum, Short stature, Long eyelashes, Narrow mouth, T... OMIM:615502
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Microphthalmia, Brachydactyly OMIM:233270
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Avascula... ORPHA:83451
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N... ORPHA:293964
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Elbow dislocation, Short femur, Short ... OMIM:108720
Zimmermann-Laband Syndrome
Micrognathia, Bifid uvula, Hypoplastic fingernail, Large fleshy ears, Short neck, Cleft palate, T... ORPHA:3473
Leber Congenital Amaurosis 8